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The likely causal variant in Labradors is an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3, causing an amino acid codon frameshift and a premature stop codon.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
The likely causal variant in Labradors is an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3, causing an amino acid codon frameshift and a premature stop codon.
Clinical features
Signs may be noticeable as early as 4 to 6 weeks of age. Affected dogs have short-limbed dwarfism and vitreous dysplasia and the forelimbs are most noticeably affected. In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus.
Additional information
This test is based on an association study. Relation between genetic variant and disease not completely confirmed.
References
Pubmed ID: 20686772
Omia ID: 1522